ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer)

dbSNP: rs2091200503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288460 SCV001475578 likely pathogenic not provided 2020-02-18 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.
Labcorp Genetics (formerly Invitae), Labcorp RCV001871714 SCV002216082 pathogenic Ataxia-telangiectasia syndrome 2021-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 994786). This premature translational stop signal has been observed in individual(s) with Ataxia-telangiectasia (PMID: 21665257, 27664052). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe2958*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).

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